Varaico: Literature-Extracted Genetic Variants

CBLB

339 papers

RefSeq Summary

This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded pr...

Pfam Domains

Cbl_Naa 41–167UCSCCBL proto-oncogene N-terminal domain 1

Cbl_N2aa 171–254UCSCCBL proto-oncogene N-terminus, EF hand-like domain

Cbl_N3aa 256–341UCSCCBL proto-oncogene N-terminus, SH2-like domain

zf-C3HC4aa 373–411UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

Cbl proto-oncogene B

HGNC Alias Symbols

RNF56; Cbl-b

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_170662.5

p.R58*

c.172A>T

Surrounding Variants

1 paper

NM_170662.5

p.V56_V57Splc

c.169-1G>T

1 paper

NM_170662.5

p.L59insFs

c.176dupT

1 paper

NM_170662.5

p.C60fs

c.178_179fs

3 papers

NM_170662.5

p.Q61K

c.181C>A

1 paper

NM_170662.5

p.Q61L

c.182A>T

1 paper

NM_170662.5

p.Q61R

c.182A>G

1 paper

NM_170662.5

p.P63S

c.187C>T

3 papers

NM_170662.5

p.Q66L

c.197A>T

1 paper

NM_170662.5

p.S70G

c.208A>G

1 paper

NM_170662.5

p.D76N

c.226G>A

1 paper

NM_170662.5

p.D76G

c.227A>G

1 paper

NM_170662.5

p.P79P

c.237T>G